ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2499260463
Gene: HARS1
HGNC
NCBI
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_002100.2:p.Thr482Arg
CA3443820
NM_002109.6:c.1445C>G